rs756718693, EXT1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Multiple Exostoses
CUI: C0015306
Disease: Hereditary Multiple Exostoses
51 0.925 0.120 8 117799833 missense variant G/A snv 0.010 1.000 1 2017 2017
Osteochondromatosis
CUI: C0206641
Disease: Osteochondromatosis
1 0.925 0.120 8 117799833 missense variant G/A snv 0.010 1.000 1 2017 2017